المؤلفون: Sergio Garcia-Segura, Javier del Rey, Laia Closa, Iris Garcia-Martínez, Carlos Hobeich, Ana Belén Castel, Francisco Vidal, Jordi Benet, Maria Oliver-Bonet

المساهمون: Institut Català de la Salut, [Garcia-Segura S, Del Rey J] Unit of Cell Biology and Medical Genetics, Department of Cell Biology, Physiology and Immunology, Universitat Autònoma de Barcelona, Bellaterra, Spain. [Closa L] Histocompatibility and Immunogenetics Laboratory, Banc de Sang i Teixits (BST), Barcelona, Spain. Medicina Transfusional, Vall d’Hebron Institut de Recerca (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain. [Garcia-Martínez I, Hobeich C] Grup de Recerca de Medicina Transfusional, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Grup de Coagulopaties Congènites, Banc de Sang i Teixits (BST), Barcelona, Spain. [Castel AB] Instituto de Fertilidad, Palma de Mallorca, Spain. [Vidal F] Grup de Recerca de Medicina Transfusional, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Grup de Coagulopaties Congènites, Banc de Sang i Teixits (BST), Barcelona, Spain. CIBER de Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: International Journal of Molecular Sciences; Volume 24; Issue 9; Pages: 7867
Scientia

مصطلحات موضوعية: Otros calificadores::Otros calificadores::/genética [Otros calificadores], Organic Chemistry, General Medicine, Male Urogenital Diseases::Genital Diseases, Male::Infertility [DISEASES], Esterilitat, Bacteris, Catalysis, Computer Science Applications, Inorganic Chemistry, fenómenos microbiológicos::microbiota [FENÓMENOS Y PROCESOS], Other subheadings::Other subheadings::/genetics [Other subheadings], Physical and Theoretical Chemistry, Microbiological Phenomena::Microbiota [PHENOMENA AND PROCESSES], enfermedades urogenitales masculinas::enfermedades de los genitales masculinos::infertilidad [ENFERMEDADES], Molecular Biology, seminal microbiota, MinION, nanopore sequencing, Illumina, male fertility, Genètica, Spectroscopy

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed9f3a585131ea430cb120cab6e0ecc7Test

المؤلفون: Esther Clavero, José Manuel Sanchez-Maldonado, Angelica Macauda, Rob Ter Horst, Belém Sampaio-Marques, Artur Jurczyszyn, Alyssa Clay-Gilmour, Angelika Stein, Michelle A. T. Hildebrandt, Niels Weinhold, Gabriele Buda, Ramón García-Sanz, Waldemar Tomczak, Ulla Vogel, Andrés Jerez, Daria Zawirska, Marzena Wątek, Jonathan N. Hofmann, Stefano Landi, John J. Spinelli, Aleksandra Butrym, Abhishek Kumar, Joaquín Martínez-López, Sara Galimberti, María Eugenia Sarasquete, Edyta Subocz, Elzbieta Iskierka-Jażdżewska, Graham G. Giles, Malwina Rybicka-Ramos, Marcin Kruszewski, Niels Abildgaard, Francisco García Verdejo, Pedro Sánchez Rovira, Miguel Inacio da Silva Filho, Katalin Kadar, Małgorzata Razny, Wendy Cozen, Matteo Pelosini, Manuel Jurado, Parveen Bhatti, Marek Dudzinski, Agnieszka Druzd-Sitek, Enrico Orciuolo, Yang Li, Aaron D. Norman, Jan Maciej Zaucha, Rui Manuel Reis, Miroslaw Markiewicz, Juan José Rodríguez Sevilla, Vibeke Andersen, Krzysztof Jamroziak, Kari Hemminki, Sonja I. Berndt, Vicent Rajkumar, Grzegorz Mazur, Shaji K. Kumar, Paula Ludovico, Arnon Nagler, Stephen J. Chanock, Charles Dumontet, Mitchell J. Machiela, Judit Varkonyi, Nicola J. Camp, Elad Ziv, Annette Juul Vangsted, Elizabeth E. Brown, Daniele Campa, Celine M. Vachon, Mihai G. Netea, Federico Canzian, Asta Försti, Juan Sainz

المساهمون: Institut Català de la Salut, [Clavero E] Hematology Department, Virgen de las Nieves University Hospital, Granada, Spain. [Sanchez-Maldonado JM] Genomic Oncology Area, GENYO, Centre for Genomics and Oncological Research, Pfizer/University of Granada/Andalusian Regional Government, PTS, Granada, Spain. Instituto de Investigación Biosanataria IBs, Granada, Granada, Spain. [Macauda A] Genomic Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany. [Ter Horst R] Department of Internal Medicine and Radboud Center for Infectious Diseases, Radboud University Medical Center, GA Nijmegen, The Netherlands. CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria. [Sampaio-Marques B] Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal. [Jurczyszyn A] Plasma Cell Dyscrasias Center, Department of Hematology, Jagiellonian University Medical College, Kraków, Poland. [Jerez A] Experimental Hematology Unit, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Servei d’Hematologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: International Journal of Molecular Sciences, 24, 10
International Journal of Molecular Sciences; Volume 24; Issue 10; Pages: 8500
Scientia
International Journal of Molecular Sciences, 24

مصطلحات موضوعية: fenómenos fisiológicos celulares::muerte celular::autofagia [FENÓMENOS Y PROCESOS], Cell Physiological Phenomena::Cell Death::Autophagy [PHENOMENA AND PROCESSES], Otros calificadores::Otros calificadores::/genética [Otros calificadores], Organic Chemistry, Hemic and Lymphatic Diseases::Hematologic Diseases::Blood Protein Disorders::Paraproteinemias::Hemic and Lymphatic Diseases::Hematologic Diseases::Multiple Myeloma [DISEASES], lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Mieloma múltiple - Aspectes genètics, General Medicine, Biological Factors::Biomarkers [CHEMICALS AND DRUGS], Catalysis, factores biológicos::biomarcadores [COMPUESTOS QUÍMICOS Y DROGAS], Computer Science Applications, multiple myeloma, autophagy, genetic variants, genetic susceptibility, Inorganic Chemistry, All institutes and research themes of the Radboud University Medical Center, Autofàgia, Marcadors bioquímics, Other subheadings::Other subheadings::/genetics [Other subheadings], Physical and Theoretical Chemistry, enfermedades hematológicas y linfáticas::enfermedades hematológicas::trastornos de las proteínas sanguíneas::paraproteinemias::enfermedades hematológicas y linfáticas::enfermedades hematológicas::mieloma múltiple [ENFERMEDADES], Molecular Biology, Spectroscopy

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9418026976c50e18561c5d0878d524cTest
https://repository.ubn.ru.nl/handle/2066/293432Test

المؤلفون: Luca Bosco, Daniela Leone, Laura Costa Comellas, Mauro Monforte, Marika Pane, Eugenio Mercuri, Enrico Bertini, Adele D’Amico, Fabiana Fattori

المساهمون: Institut Català de la Salut, [Bosco L] Genetics and Rare Diseases Research Division, Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy. Department of Science, University 'Roma Tre', Rome, Italy. [Leone D] Centro Clinico Nemo, Fondazione Policlinico Universitario A. Gemelli IRCCS-Università Cattolica del Sacro Cuore, Roma, Italy. [Costa Comellas L] Servei de Neurologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. [Monforte M] UOC di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy. [Pane M, Mercuri E] Centro Clinico Nemo, Fondazione Policlinico Universitario A. Gemelli IRCCS-Università Cattolica del Sacro Cuore, Roma, Italy. Pediatric Neurology, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS-Università Cattolica del Sacro Cuore, Rome, Italy, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Otros calificadores::Otros calificadores::/genética [Otros calificadores], Organic Chemistry, enfermedades musculoesqueléticas::enfermedades musculares::miopatías estructurales congénitas [ENFERMEDADES], Genetic Phenomena::Genetic Variation::Mutation [PHENOMENA AND PROCESSES], General Medicine, Musculoskeletal Diseases::Muscular Diseases::Myopathies, Structural, Congenital [DISEASES], Catalysis, Computer Science Applications, Inorganic Chemistry, Anomalies cromosòmiques, Músculs - Malalties - Aspectes genètics, Other subheadings::Other subheadings::/genetics [Other subheadings], Physical and Theoretical Chemistry, Molecular Biology, Spectroscopy, fenómenos genéticos::variación genética::mutación [FENÓMENOS Y PROCESOS]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da1b8331fd30da6eb0a5138914868503Test
https://hdl.handle.net/11351/8474Test

المؤلفون: Beatriz Villafranca-Magdalena, Carina Masferrer-Ferragutcasas, Carlos Lopez-Gil, Eva Coll-de la Rubia, Marta Rebull, Genis Parra, Ángel García, Armando Reques, Silvia Cabrera, Eva Colas, Antonio Gil-Moreno, Cristian P. Moiola

المساهمون: Institut Català de la Salut, [Villafranca-Magdalena B, Masferrer-Ferragutcasas C, Lopez-Gil C, Rebull M, Moiola CP] Grup de Recerca Biomèdica en Ginecologia, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Escola de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain. [Coll-de la Rubia E, Colas E] Grup de Recerca Biomèdica en Ginecologia, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Escola de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain. Biomedical Research Center Network (CIBERONC), Madrid, Spain. [Parra G] National Center for Genomic Analysis—Genomic Regulation Center (CNAG-CRG), Scientific Park of Barcelona, Barcelona, Spain. [García A, Reques A] Grup de Recerca Biomèdica en Ginecologia, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Servei de Patologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Cabrera S, Gil-Moreno A] Grup de Recerca Biomèdica en Ginecologia, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Escola de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain. Biomedical Research Center Network (CIBERONC), Madrid, Spain. Servei de Ginecologia Oncològica, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 11; Pages: 6266
Scientia

مصطلحات موضوعية: Otros calificadores::Otros calificadores::/genética [Otros calificadores], Organic Chemistry, Neoplasms::Neoplasms by Site::Urogenital Neoplasms::Genital Neoplasms, Female::Uterine Neoplasms::Endometrial Neoplasms [DISEASES], endometrial cancer, preclinical model, PDXs, personalized medicine, translational research, genomics, bioinformatics, molecular marker, TCGA, General Medicine, Genomics, Xenograft Model Antitumor Assays, Catalysis, Computer Science Applications, Endometrial Neoplasms, Inorganic Chemistry, Disease Models, Animal, Genòmica, Other subheadings::Other subheadings::/genetics [Other subheadings], Animals, Heterografts, Humans, Female, Endometri - Càncer, Physical and Theoretical Chemistry, Neoplasm Recurrence, Local, neoplasias::neoplasias por localización::neoplasias urogenitales::neoplasias de los genitales femeninos::neoplasias uterinas::neoplasias endometriales [ENFERMEDADES], Molecular Biology, Spectroscopy

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7540405cab123be7843b3463a6fa6979Test

المؤلفون: Inés García-Consuegra, Sara Asensio-Peña, Rocío Garrido-Moraga, Tomàs Pinós, Cristina Domínguez-González, Alfredo Santalla, Gisela Nogales-Gadea, Pablo Serrano-Lorenzo, Antoni L. Andreu, Joaquín Arenas, José L. Zugaza, Alejandro Lucia, Miguel A. Martín

المساهمون: Institut Català de la Salut, [García-Consuegra I, Domínguez-González C] Mitochondrial and Neuromuscular Disorders Group, Hospital 12 de Octubre Health Research Institute (imas12), Madrid, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain. [Asensio-Peña S, Garrido-Moraga R] Mitochondrial and Neuromuscular Disorders Group, Hospital 12 de Octubre Health Research Institute (imas12), Madrid, Spain. [Pinós T] Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain. Grup de Recerca de Patologia Neuromuscular i Mitocondrial, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Santalla A] Department of Computer and Sport Sciences, Universidad Pablo de Olavide, Sevilla, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: International Journal of Molecular Sciences
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
Addi. Archivo Digital para la Docencia y la Investigación
Universidad de Alicante (UA)
International Journal of Molecular Sciences; Volume 23; Issue 9; Pages: 4650
Scientia

مصطلحات موضوعية: McArdle disease, Proteome, Múscul estriat - Patogènesi, Enfermedad del almacenamiento de glucógeno tipo V, Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Carbohydrate Metabolism, Inborn Errors::Glycogen Storage Disease::Glycogen Storage Disease Type V [DISEASES], Enfermedad cardiovascular, Genética humana, Biological Factors::Biomarkers [CHEMICALS AND DRUGS], Catalysis, factores biológicos::biomarcadores [COMPUESTOS QUÍMICOS Y DROGAS], PYGM, Inorganic Chemistry, enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::alteraciones congénitas del metabolismo::trastornos congénitos del metabolismo de los carbohidratos::enfermedad por almacenamiento de glucógeno::enfermedad por almacenamiento de glucógeno tipo V [ENFERMEDADES], proteomics, myophosphorylase, Other subheadings::Other subheadings::/genetics [Other subheadings], Humans, Protein Isoforms, Physical and Theoretical Chemistry, skeletal muscle, Muscle, Skeletal, aminoácidos, péptidos y proteínas::proteínas::proteoma [COMPUESTOS QUÍMICOS Y DROGAS], Molecular Biology, Spectroscopy, GSDV, iTRAQ, metabolic myopathy, protein biomarkers, Metabolismo, Otros calificadores::Otros calificadores::/genética [Otros calificadores], Organic Chemistry, General Medicine, Computer Science Applications, Glicogen, Marcadors bioquímics, Glycogen Storage Disease Type V, Metabolisme, Errors congènits del, Amino Acids, Peptides, and Proteins::Proteins::Proteome [CHEMICALS AND DRUGS], Biomarkers, Glycogen

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::244b932b2fd543f5a5ec25d294df5ba0Test
https://fundanet.igtp.cat/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=2574Test

المؤلفون: Alejandro Cruz-Utrilla, Natalia Gallego-Zazo, Jair Antonio Tenorio-Castaño, Inmaculada Guillén, Alba Torrent-Vernetta, Amparo Moya-Bonora, Carlos Labrandero, María Elvira Garrido-Lestache Rodríguez-Monte, Alejandro Rodríguez-Ogando, María del Mar Rodríguez Vázquez Del Rey, Juana Espín, Beatriz Plata-Izquierdo, María Álvarez-Fuente, Antonio Moreno-Galdó, Pilar Escribano-Subias, María Jesús Del Cerro Marín

المساهمون: Institut Català de la Salut, [Cruz-Utrilla A] Pulmonary Hypertension Unit, ERN-Lung, Cardiology Department, Hospital Universitario 12 de Octubre, Madrid, Spain. [Gallego-Zazo N, Tenorio-Castaño JA] Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, Madrid, Spain. CIBERER, Centro de Investigación en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain. ITHACA, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability, Brussels, Belgium. [Guillén I] Pediatric Cardiology Unit, Department of Pediatrics, Hospital Universitario Virgen del Rocío, Sevilla, Spain. [Torrent-Vernetta A, Moreno-Galdó A] CIBERER, Centro de Investigación en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain. Unitat de Pneumologia Pediàtrica i Fibrosi Quística, Servei de Pediatria, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Moya-Bonora A] Pediatric Cardiology, Department of Pediatrics, Hospital Universitari i Politècnic La Fe, Valencia, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
International Journal of Molecular Sciences; Volume 23; Issue 18; Pages: 10433
Scientia

مصطلحات موضوعية: enfermedades respiratorias::enfermedades pulmonares::hipertensión pulmonar [ENFERMEDADES], Catalysis, técnicas de investigación::métodos epidemiológicos::recopilación de datos::registros [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], Inorganic Chemistry, Respiratory Tract Diseases::Lung Diseases::Hypertension, Pulmonary [DISEASES], Hipertensió pulmonar - Aspectes genètics, Other subheadings::Other subheadings::/genetics [Other subheadings], Humans, genetics, Familial Primary Pulmonary Hypertension, Registries, Physical and Theoretical Chemistry, Child, Molecular Biology, Spectroscopy, Pulmonary Arterial Hypertension, Otros calificadores::Otros calificadores::/genética [Otros calificadores], Organic Chemistry, heritable pulmonary arterial hypertension, General Medicine, Investigative Techniques::Epidemiologic Methods::Data Collection::Registries [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], Computer Science Applications, Registres mèdics, pediatric pulmonary hypertension, pulmonary veno-occlusive disease, Pulmonary Veno-Occlusive Disease, Genetic Background

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::613716f6ee6d3ab322b0a53bad57ada4Test
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=17137Test

المؤلفون: Dolores Martínez-Rubio, Isabel Hinarejos, Paula Sancho, Nerea Gorría-Redondo, Raquel Bernadó-Fonz, Cristina Tello, Clara Marco-Marín, Itxaso Martí-Carrera, María Jesús Martínez-González, Ainhoa García-Ribes, Raquel Baviera-Muñoz, Isabel Sastre-Bataller, Irene Martínez-Torres, Anna Duat-Rodríguez, Patrícia Janeiro, Esther Moreno, Leticia Pías-Peleteiro, Mar O’Callaghan Gordo, Ángeles Ruiz-Gómez, Esteban Muñoz, Maria Josep Martí, Ana Sánchez-Monteagudo, Candela Fuster, Amparo Andrés-Bordería, Roser Maria Pons, Silvia Jesús-Maestre, Pablo Mir, Vincenzo Lupo, Belén Pérez-Dueñas, Alejandra Darling, Sergio Aguilera-Albesa, Carmen Espinós

المساهمون: Institut Català de la Salut, [Martínez-Rubio D, Hinarejos I] Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain. Joint Unit CIPF-IIS La Fe Rare Diseases, Valencia, Spain. [Sancho P, Tello C] Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain. [Gorría-Redondo N, Bernadó-Fonz R] Paediatric Neurology Unit, Department of Paediatrics, Hospital Universitario de Navarra, Navarrabiomed, Pamplona, Spain. [Pérez-Dueñas B] Servei de Neurologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Instituto de Salud Carlos III, European Commission, Fundació La Marató de TV3, Generalitat Valenciana, Ministerio de Educación, Cultura y Deporte (España), Fundació per Amor a L'Art, Marco-Marín, Clara [0000-0002-8813-3515], Marco-Marín, Clara

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 19; Pages: 11847
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Scientia
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Universitat Rovira i virgili (URV)
Digital.CSIC. Repositorio Institucional del CSIC

مصطلحات موضوعية: Iron, Genetic Phenomena::Genetic Variation::Mutation [PHENOMENA AND PROCESSES], Kinesins, Catalysis, Atàxia - Aspectes genètics, Inorganic Chemistry, cerebellar atrophy, gene panel, Other subheadings::Other subheadings::/genetics [Other subheadings], Humans, movement disorders, ataxia, neurodegeneration with brain iron accumulation (NBIA), exome sequencing, Physical and Theoretical Chemistry, Molecular Biology, fenómenos genéticos::variación genética::mutación [FENÓMENOS Y PROCESOS], Spectroscopy, Movement Disorders, Otros calificadores::Otros calificadores::/genética [Otros calificadores], Organic Chemistry, Brain, Neurodegenerative Diseases, General Medicine, Computer Science Applications, Fenotip, Phosphotransferases (Alcohol Group Acceptor), Anomalies cromosòmiques, Phenotype, enfermedades del sistema nervioso::manifestaciones neurológicas::discinesias::ataxia [ENFERMEDADES], Mutation, Genetic Phenomena::Phenotype [PHENOMENA AND PROCESSES], Ataxia, fenómenos genéticos::fenotipo [FENÓMENOS Y PROCESOS], Nervous System Diseases::Neurologic Manifestations::Dyskinesias::Ataxia [DISEASES]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2e20b8744f3e03b982dab5cae1b37d9Test
https://doi.org/10.3390/ijms231911847Test

المؤلفون: Sancho, Paula, Andrés-Bordería, Amparo, Gorría-Redondo, Nerea, Llano, Katia, Martínez-Rubio, Dolores, Yoldi-Petri, María Eugenia, Blumkin, Luba, Rodríguez de la Fuente, Pablo, Gil-Ortiz, Fernando, Fernández-Murga, Leonor, Sánchez-Monteagudo, Ana, Lupo, Vincenzo, Pérez-Dueñas, Belén, Espinós, Carmen, Aguilera-Albesa, Sergio, Universitat Autònoma de Barcelona

المساهمون: Institut Català de la Salut, [Sancho P, Martínez-Rubio D] Unit of Rare Neurodegenerative Diseases, Centro de Investigación Príncipe Felipe (CIPF), 46012 Valencia, Spain. [Andrés-Bordería A] Unit of Rare Neurodegenerative Diseases, Centro de Investigación Príncipe Felipe (CIPF), 46012 Valencia, Spain. Department of Physiology, Faculty of Medicine and Dentistry, University of Valencia, 46010 Valencia, Spain. [Gorría-Redondo N, Yoldi-Petri ME] Pediatric Neurology Unit, Department of Pediatrics, Complejo Hospitalario de Navarra, 31008 Pamplona, Spain. [Pérez-Dueñas B] Grup de Recerca en Neurologia Pediàtrica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: International Journal of Molecular Sciences
Volume 22
Issue 5
International Journal of Molecular Sciences, Vol 22, Iss 2505, p 2505 (2021)
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Scientia

مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Pathology, Protein Conformation, Sequence Homology, SPTBN2 gene, b-III spectrin, 030105 genetics & heredity, Fluid-attenuated inversion recovery, Cohort Studies, lcsh:Chemistry, Non-progressive congenital ataxia, 0302 clinical medicine, β-III spectrin, Spectrin, enfermedades del sistema nervioso::enfermedades neurodegenerativas [ENFERMEDADES], Age of Onset, Child, lcsh:QH301-705.5, Spectroscopy, Otros calificadores::Otros calificadores::/genética [Otros calificadores], Neurodegeneration, neurodegeneration, Neurodegenerative Diseases, non-progressive congenital ataxia, Syndrome, General Medicine, Phenotype, Hypotonia, Computer Science Applications, Nervous System Diseases::Neurodegenerative Diseases [DISEASES], Spinocerebellar ataxia, medicine.symptom, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Cerebellar Ataxia, Neuroimaging, Biology, Catalysis, Article, Inorganic Chemistry, 03 medical and health sciences, Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Cerebellar Diseases::Cerebellar Ataxia [DISEASES], Other subheadings::Other subheadings::/genetics [Other subheadings], medicine, Humans, Amino Acid Sequence, Physical and Theoretical Chemistry, Molecular Biology, Genetic Association Studies, Organic Chemistry, medicine.disease, Hyperintensity, Sistema nerviós - Degeneració - Aspectes genètics, lcsh:Biology (General), lcsh:QD1-999, enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades cerebelosas::ataxia cerebelosa [ENFERMEDADES], Mutation, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33d864457d3f818299c2330160bb9c62Test
http://europepmc.org/articles/PMC7958857Test

المؤلفون: María José de Castro, Roberto Giugliani, Mireia del Toro, María L. Couce

المساهمون: Institut Català de la Salut, [de Castro MJ, Couce ML] Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Paediatrics, Santiago de Compostela University Clinical Hospital, 15704 Santiago de Compostela, Spain. IDIS, Health Research Institute of Santiago de Compostela, 15704 Santiago de Compostela, Spain. CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, 28029 Madrid, Spain. MetabERN, European Reference Network for Hereditary Metabolic Disorders, 33100 Udine, Italy. [Del Toro M] CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, 28029 Madrid, Spain. MetabERN, European Reference Network for Hereditary Metabolic Disorders, 33100 Udine, Italy. Servei de Neurologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. CIBERER, MetabERN, Barcelona, Spain. [Giugliani R] Medical Genetics Service, Gene Therapy Center, Medical Genetics Clinical Research Group, Biodiscovery Research Group, HCPA, Porto Alegre 90035-903, Brazil. Department of Genetics, UFRGS, Porto Alegre 91501-970, Brazil. DASA/GeneOne, São Paulo 04078-013, Brazil, Vall d'Hebron Barcelona Hospital Campus

المصدر: Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
International Journal of Molecular Sciences, Vol 22, Iss 9200, p 9200 (2021)
International Journal of Molecular Sciences
Scientia

مصطلحات موضوعية: Viral vectors, viruses, Genetic enhancement, Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Carbohydrate Metabolism, Inborn Errors::Mucopolysaccharidoses [DISEASES], blood brain barrier, Review, Bioinformatics, medicine.disease_cause, Terapia genética, Sistema nervoso central, Mucopolissacaridoses, Genome editing, Adeno-associated virus, lentivirus, Medicine, Biology (General), Spectroscopy, Gene Editing, Otros calificadores::Otros calificadores::/genética [Otros calificadores], General Medicine, Enzyme replacement therapy, Revisão, mucopolysaccharidoses, gene therapy, Computer Science Applications, Brain disease, Chemistry, Metabolisme, Errors congènits del - Tractament, Ex vivo gene therapy, Blood-Brain Barrier, Blood brain barrier, Teràpia genètica, congenital, hereditary, and neonatal diseases and abnormalities, enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::alteraciones congénitas del metabolismo::trastornos congénitos del metabolismo de los carbohidratos::mucopolisacaridosis [ENFERMEDADES], viral vectors, QH301-705.5, Genetic Vectors, adeno-associated virus, Catalysis, Inorganic Chemistry, Gene therapy, Other subheadings::Other subheadings::/genetics [Other subheadings], Animals, Humans, Therapeutics::Biological Therapy::Genetic Therapy [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], Physical and Theoretical Chemistry, QD1-999, Molecular Biology, business.industry, Organic Chemistry, Lentivirus, Genetic Therapy, Mucopolysaccharidoses, central nervous system, Clinical trial, Central nervous system, Barreira hematoencefálica, terapéutica::terapia biológica::terapia genética [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], business, Potential toxicity

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5e2475541d031d1db3e41a14ca60458Test